caa a22 4500 445883529 CHVBK 20180317145552.0 cr unu---uuuuu 170323e20111001xx s 000 0 eng 10.1007/s10157-011-0456-7 doi (NATIONALLICENCE)springer-10.1007/s10157-011-0456-7 Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene [Elektronische Daten] [Arun Gopalakrishnan, Manish Kumar, Sriram Krishnamurthy, Osamu Sakamoto, Sadagopan Srinivasan] Fanconi-Bickel syndrome is a rare autosomal recessive disorder characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction and impaired utilization of glucose and galactose. Most cases have been reported from Europe, Japan, Turkey and the Mediterranean belt. We report a 3-year-old boy from southern India who presented with doll-like facies, florid rickets, massive hepatomegaly, growth retardation, renomegaly and laboratory evidence of proximal renal tubular dysfunction. Liver biopsy demonstrated evidence of glycogenosis. Direct sequencing of genomic DNA confirmed a diagnosis of Fanconi-Bickel syndrome, revealing a G-to-A substitution at position −1 of the splicing acceptor site in intron 1 of the GLUT2 gene in a homozygous pattern (c.16-1G>A or IVS1-1G>A). This novel mutation has not been described in earlier studies. The child was treated with oral potassium citrate, oral phosphorus supplementation, and alpha-calcitriol, on which metabolic derangements were corrected. Japanese Society of Nephrology, 2011 Fanconi-Bickel syndrome nationallicence GLUT2 gene nationallicence Rickets nationallicence Hepatomegaly nationallicence Glycogenosis nationallicence Gopalakrishnan Arun Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Dhanvantari Nagar, 605006, Pondicherry, India aut Kumar Manish Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Dhanvantari Nagar, 605006, Pondicherry, India aut Krishnamurthy Sriram Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Dhanvantari Nagar, 605006, Pondicherry, India aut Sakamoto Osamu Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryomachi, Aobaku, 980-8574, Sendai, Japan aut Srinivasan Sadagopan Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Dhanvantari Nagar, 605006, Pondicherry, India aut Clinical and Experimental Nephrology Springer Japan 15/5(2011-10-01), 745-748 1342-1751 15:5<745 2011 15 10157 https://doi.org/10.1007/s10157-011-0456-7 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10157-011-0456-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Gopalakrishnan Arun Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Dhanvantari Nagar, 605006, Pondicherry, India aut NATIONALLICENCE 700 1- Kumar Manish Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Dhanvantari Nagar, 605006, Pondicherry, India aut NATIONALLICENCE 700 1- Krishnamurthy Sriram Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Dhanvantari Nagar, 605006, Pondicherry, India aut NATIONALLICENCE 700 1- Sakamoto Osamu Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryomachi, Aobaku, 980-8574, Sendai, Japan aut NATIONALLICENCE 700 1- Srinivasan Sadagopan Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Dhanvantari Nagar, 605006, Pondicherry, India aut NATIONALLICENCE 773 0- Clinical and Experimental Nephrology Springer Japan 15/5(2011-10-01), 745-748 1342-1751 15:5<745 2011 15 10157 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer